SlideShare a Scribd company logo
1 of 11

Placental biopsy, is a prenatal test that involves taking a
sample of tissue from the placenta to test for
chromosomal abnormalities
Tells us:
 chromosome analysis
 molecular genetic diagnosis like down syndrome or
abnormal chromosomal number
 biochemical diagnosis.
Placental biopsy:

 A long needle no. 16 B.D.
with stylet
 a 20cc syringe containing
10cc of saline with 1cc of
sodium citrate solution
 Fine needle for local
anesthesia.
Materials:

 Selection of the Puncture Site:
1. tap puncture is performed
slightly over the umbilicus
2. the position of the uterus is
corrected, especially the axial
rotation
 Technique Employed:
1. Local anesthesia up to the
uterine wall
2. Biopsy needle is introduced as
not to injure the chorial vessels
3. Small pieces of the villi can be
seen
4. Visualization under electron
microscope
Steps to follow

Umbilical blood sampling,
a sample of the baby's blood is
removed from the umbilical cord for
testing.
It may be performed for various
reasons which include:
 establish the degree of a fetal anemia
 further investigation of an
underlying chromosomal anomaly
 further investigation of an in utero
infection
Cordocentesis

 a 20-gauge spinal needle is
inserted under direct
sonographic guidance
towards the umbilical vein
 a posterior placenta
increases the difficulty of the
procedure
 a muscle relaxant may be
required prior to the
procedure to immobilise the
intervening fetus.
Steps to perform:

Detection of hereditary conditions of the fetus that cannot
be identified through more conventional methods such as
amniocentesis or CVS.
Detect skin disorders such as
1. Bullous disease
2. Pigment cell disorders
3. Problems with proper development of epidermal
appendages
Fetal tissue biopsy:

 Local anesthetic is used to
anestheize the maternal skin
 A trocar inserted into the
mother’s abdomen
 Used to obtain a fetal skin sample
 From the thorax, back, or the
scalp
Steps to perform

A special ultrasound, called a nuchal translucency
screening, measures baby's nasal bone as well as the fluid
at the back of your baby's neck.
 It's a way of checking fetus:
 Down syndrome
 Edward's syndrome (trisomy 18) trisomy 13 etc
Nuchal Translucency and
Blood Test:

 A technician will take a
quick blood sample from
your arm or fingertip. The
nuchal translucency
screening is a normal
ultrasound
 It will take between 20 to
40 minutes.
Steps to follow

 Invasive prenatal diagnosis is most commonly
performed to assess the embryonal chromosome set.
 An increasing number of monogenic diseases can be
diagnosed prenatally by either genetic or biochemical
testing
 A number of malformations can be ascertained
prenatally by ultrasonography.
Conclusion:

More Related Content

Similar to prenatal Diagnosis of genetic Disorders

AMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptx
AMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptxAMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptx
AMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptx
shivaguru23
 
Pelvic inflammatory disease
Pelvic inflammatory diseasePelvic inflammatory disease
Pelvic inflammatory disease
raj kumar
 
REPRODUCTIVE SYSTEM EXAM.pptx
REPRODUCTIVE SYSTEM EXAM.pptxREPRODUCTIVE SYSTEM EXAM.pptx
REPRODUCTIVE SYSTEM EXAM.pptx
Davy40
 
biopsy in oral lesions bbbbbbbbbbbbbpptx
biopsy in oral lesions bbbbbbbbbbbbbpptxbiopsy in oral lesions bbbbbbbbbbbbbpptx
biopsy in oral lesions bbbbbbbbbbbbbpptx
Aebeenababu
 
Aminocentosis babar khan university of swat
Aminocentosis  babar khan university of swatAminocentosis  babar khan university of swat
Aminocentosis babar khan university of swat
Babar khan
 

Similar to prenatal Diagnosis of genetic Disorders (20)

Genetic screening..dr.padmesh
Genetic screening..dr.padmeshGenetic screening..dr.padmesh
Genetic screening..dr.padmesh
 
Amniosentasis
AmniosentasisAmniosentasis
Amniosentasis
 
Hysterosalpingography; therapeutic and diagnostic approach
Hysterosalpingography; therapeutic and diagnostic approachHysterosalpingography; therapeutic and diagnostic approach
Hysterosalpingography; therapeutic and diagnostic approach
 
pelvic inflammatory disease in gynaecology
pelvic inflammatory disease in gynaecologypelvic inflammatory disease in gynaecology
pelvic inflammatory disease in gynaecology
 
Prenatal diagnosis
Prenatal diagnosisPrenatal diagnosis
Prenatal diagnosis
 
AMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptx
AMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptxAMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptx
AMINOSCOPY AND FETOSCOPY INVASIVE PROCEDURE.pptx
 
Cytopathology Lab manual for MLT Students
Cytopathology Lab manual for MLT Students Cytopathology Lab manual for MLT Students
Cytopathology Lab manual for MLT Students
 
TISSUE COLLECTION AND FIXATION final.pptx
TISSUE COLLECTION AND FIXATION final.pptxTISSUE COLLECTION AND FIXATION final.pptx
TISSUE COLLECTION AND FIXATION final.pptx
 
CYTOLOGY PPT.pptx
CYTOLOGY PPT.pptxCYTOLOGY PPT.pptx
CYTOLOGY PPT.pptx
 
Screening of high risk pregnancy
Screening of high risk pregnancyScreening of high risk pregnancy
Screening of high risk pregnancy
 
Foetal measure
Foetal measureFoetal measure
Foetal measure
 
Pelvic inflammatory disease
Pelvic inflammatory diseasePelvic inflammatory disease
Pelvic inflammatory disease
 
1. obg glossaries
1. obg glossaries1. obg glossaries
1. obg glossaries
 
Lecture - 3 MBBS (contrast media/agent )
Lecture - 3 MBBS (contrast media/agent )Lecture - 3 MBBS (contrast media/agent )
Lecture - 3 MBBS (contrast media/agent )
 
REPRODUCTIVE SYSTEM EXAM.pptx
REPRODUCTIVE SYSTEM EXAM.pptxREPRODUCTIVE SYSTEM EXAM.pptx
REPRODUCTIVE SYSTEM EXAM.pptx
 
Advances in amniotic fluid detection
Advances in amniotic fluid detectionAdvances in amniotic fluid detection
Advances in amniotic fluid detection
 
biopsy in oral lesions bbbbbbbbbbbbbpptx
biopsy in oral lesions bbbbbbbbbbbbbpptxbiopsy in oral lesions bbbbbbbbbbbbbpptx
biopsy in oral lesions bbbbbbbbbbbbbpptx
 
Gynecology 5th year, 9th lecture (Dr. Hanaa)
Gynecology 5th year, 9th lecture (Dr. Hanaa)Gynecology 5th year, 9th lecture (Dr. Hanaa)
Gynecology 5th year, 9th lecture (Dr. Hanaa)
 
Aminocentosis babar khan university of swat
Aminocentosis  babar khan university of swatAminocentosis  babar khan university of swat
Aminocentosis babar khan university of swat
 
Ncm [Recovered]
Ncm [Recovered]Ncm [Recovered]
Ncm [Recovered]
 

Recently uploaded

Pteris : features, anatomy, morphology and lifecycle
Pteris : features, anatomy, morphology and lifecyclePteris : features, anatomy, morphology and lifecycle
Pteris : features, anatomy, morphology and lifecycle
Cherry
 
Cyathodium bryophyte: morphology, anatomy, reproduction etc.
Cyathodium bryophyte: morphology, anatomy, reproduction etc.Cyathodium bryophyte: morphology, anatomy, reproduction etc.
Cyathodium bryophyte: morphology, anatomy, reproduction etc.
Cherry
 
(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...
(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...
(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...
Scintica Instrumentation
 
ONLINE VOTING SYSTEM SE Project for vote
ONLINE VOTING SYSTEM SE Project for voteONLINE VOTING SYSTEM SE Project for vote
ONLINE VOTING SYSTEM SE Project for vote
RaunakRastogi4
 
COMPOSTING : types of compost, merits and demerits
COMPOSTING : types of compost, merits and demeritsCOMPOSTING : types of compost, merits and demerits
COMPOSTING : types of compost, merits and demerits
Cherry
 
LUNULARIA -features, morphology, anatomy ,reproduction etc.
LUNULARIA -features, morphology, anatomy ,reproduction etc.LUNULARIA -features, morphology, anatomy ,reproduction etc.
LUNULARIA -features, morphology, anatomy ,reproduction etc.
Cherry
 
Human genetics..........................pptx
Human genetics..........................pptxHuman genetics..........................pptx
Human genetics..........................pptx
Cherry
 
Porella : features, morphology, anatomy, reproduction etc.
Porella : features, morphology, anatomy, reproduction etc.Porella : features, morphology, anatomy, reproduction etc.
Porella : features, morphology, anatomy, reproduction etc.
Cherry
 
Digital Dentistry.Digital Dentistryvv.pptx
Digital Dentistry.Digital Dentistryvv.pptxDigital Dentistry.Digital Dentistryvv.pptx
Digital Dentistry.Digital Dentistryvv.pptx
MohamedFarag457087
 

Recently uploaded (20)

GBSN - Microbiology (Unit 3)Defense Mechanism of the body
GBSN - Microbiology (Unit 3)Defense Mechanism of the body GBSN - Microbiology (Unit 3)Defense Mechanism of the body
GBSN - Microbiology (Unit 3)Defense Mechanism of the body
 
Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.
Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.
Genome Projects : Human, Rice,Wheat,E coli and Arabidopsis.
 
Energy is the beat of life irrespective of the domains. ATP- the energy curre...
Energy is the beat of life irrespective of the domains. ATP- the energy curre...Energy is the beat of life irrespective of the domains. ATP- the energy curre...
Energy is the beat of life irrespective of the domains. ATP- the energy curre...
 
Pteris : features, anatomy, morphology and lifecycle
Pteris : features, anatomy, morphology and lifecyclePteris : features, anatomy, morphology and lifecycle
Pteris : features, anatomy, morphology and lifecycle
 
Thyroid Physiology_Dr.E. Muralinath_ Associate Professor
Thyroid Physiology_Dr.E. Muralinath_ Associate ProfessorThyroid Physiology_Dr.E. Muralinath_ Associate Professor
Thyroid Physiology_Dr.E. Muralinath_ Associate Professor
 
Dr. E. Muralinath_ Blood indices_clinical aspects
Dr. E. Muralinath_ Blood indices_clinical  aspectsDr. E. Muralinath_ Blood indices_clinical  aspects
Dr. E. Muralinath_ Blood indices_clinical aspects
 
Cyathodium bryophyte: morphology, anatomy, reproduction etc.
Cyathodium bryophyte: morphology, anatomy, reproduction etc.Cyathodium bryophyte: morphology, anatomy, reproduction etc.
Cyathodium bryophyte: morphology, anatomy, reproduction etc.
 
Efficient spin-up of Earth System Models usingsequence acceleration
Efficient spin-up of Earth System Models usingsequence accelerationEfficient spin-up of Earth System Models usingsequence acceleration
Efficient spin-up of Earth System Models usingsequence acceleration
 
(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...
(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...
(May 9, 2024) Enhanced Ultrafast Vector Flow Imaging (VFI) Using Multi-Angle ...
 
Understanding Partial Differential Equations: Types and Solution Methods
Understanding Partial Differential Equations: Types and Solution MethodsUnderstanding Partial Differential Equations: Types and Solution Methods
Understanding Partial Differential Equations: Types and Solution Methods
 
ONLINE VOTING SYSTEM SE Project for vote
ONLINE VOTING SYSTEM SE Project for voteONLINE VOTING SYSTEM SE Project for vote
ONLINE VOTING SYSTEM SE Project for vote
 
COMPOSTING : types of compost, merits and demerits
COMPOSTING : types of compost, merits and demeritsCOMPOSTING : types of compost, merits and demerits
COMPOSTING : types of compost, merits and demerits
 
Concept of gene and Complementation test.pdf
Concept of gene and Complementation test.pdfConcept of gene and Complementation test.pdf
Concept of gene and Complementation test.pdf
 
CURRENT SCENARIO OF POULTRY PRODUCTION IN INDIA
CURRENT SCENARIO OF POULTRY PRODUCTION IN INDIACURRENT SCENARIO OF POULTRY PRODUCTION IN INDIA
CURRENT SCENARIO OF POULTRY PRODUCTION IN INDIA
 
LUNULARIA -features, morphology, anatomy ,reproduction etc.
LUNULARIA -features, morphology, anatomy ,reproduction etc.LUNULARIA -features, morphology, anatomy ,reproduction etc.
LUNULARIA -features, morphology, anatomy ,reproduction etc.
 
Human genetics..........................pptx
Human genetics..........................pptxHuman genetics..........................pptx
Human genetics..........................pptx
 
Porella : features, morphology, anatomy, reproduction etc.
Porella : features, morphology, anatomy, reproduction etc.Porella : features, morphology, anatomy, reproduction etc.
Porella : features, morphology, anatomy, reproduction etc.
 
GBSN - Biochemistry (Unit 2) Basic concept of organic chemistry
GBSN - Biochemistry (Unit 2) Basic concept of organic chemistry GBSN - Biochemistry (Unit 2) Basic concept of organic chemistry
GBSN - Biochemistry (Unit 2) Basic concept of organic chemistry
 
GBSN - Microbiology (Unit 5) Concept of isolation
GBSN - Microbiology (Unit 5) Concept of isolationGBSN - Microbiology (Unit 5) Concept of isolation
GBSN - Microbiology (Unit 5) Concept of isolation
 
Digital Dentistry.Digital Dentistryvv.pptx
Digital Dentistry.Digital Dentistryvv.pptxDigital Dentistry.Digital Dentistryvv.pptx
Digital Dentistry.Digital Dentistryvv.pptx
 

prenatal Diagnosis of genetic Disorders

  • 1.
  • 2.  Placental biopsy, is a prenatal test that involves taking a sample of tissue from the placenta to test for chromosomal abnormalities Tells us:  chromosome analysis  molecular genetic diagnosis like down syndrome or abnormal chromosomal number  biochemical diagnosis. Placental biopsy:
  • 3.   A long needle no. 16 B.D. with stylet  a 20cc syringe containing 10cc of saline with 1cc of sodium citrate solution  Fine needle for local anesthesia. Materials:
  • 4.   Selection of the Puncture Site: 1. tap puncture is performed slightly over the umbilicus 2. the position of the uterus is corrected, especially the axial rotation  Technique Employed: 1. Local anesthesia up to the uterine wall 2. Biopsy needle is introduced as not to injure the chorial vessels 3. Small pieces of the villi can be seen 4. Visualization under electron microscope Steps to follow
  • 5.  Umbilical blood sampling, a sample of the baby's blood is removed from the umbilical cord for testing. It may be performed for various reasons which include:  establish the degree of a fetal anemia  further investigation of an underlying chromosomal anomaly  further investigation of an in utero infection Cordocentesis
  • 6.   a 20-gauge spinal needle is inserted under direct sonographic guidance towards the umbilical vein  a posterior placenta increases the difficulty of the procedure  a muscle relaxant may be required prior to the procedure to immobilise the intervening fetus. Steps to perform:
  • 7.  Detection of hereditary conditions of the fetus that cannot be identified through more conventional methods such as amniocentesis or CVS. Detect skin disorders such as 1. Bullous disease 2. Pigment cell disorders 3. Problems with proper development of epidermal appendages Fetal tissue biopsy:
  • 8.   Local anesthetic is used to anestheize the maternal skin  A trocar inserted into the mother’s abdomen  Used to obtain a fetal skin sample  From the thorax, back, or the scalp Steps to perform
  • 9.  A special ultrasound, called a nuchal translucency screening, measures baby's nasal bone as well as the fluid at the back of your baby's neck.  It's a way of checking fetus:  Down syndrome  Edward's syndrome (trisomy 18) trisomy 13 etc Nuchal Translucency and Blood Test:
  • 10.   A technician will take a quick blood sample from your arm or fingertip. The nuchal translucency screening is a normal ultrasound  It will take between 20 to 40 minutes. Steps to follow
  • 11.   Invasive prenatal diagnosis is most commonly performed to assess the embryonal chromosome set.  An increasing number of monogenic diseases can be diagnosed prenatally by either genetic or biochemical testing  A number of malformations can be ascertained prenatally by ultrasonography. Conclusion: